CMD Publication Library
Congenital Muscular Dystrophy:

Collagen VI (Bethlem-Intermediate-Ullrich)
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Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment, Veyckemans, 2021
- COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy, Brands, 2020
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Clinical features of collagen VI-related dystrophies: A large Brazilian cohort, Zanoteli, 2020
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Hypoglycemia in patients with congenital muscle disease, Hayes, 2020
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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019
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Collagen VI Deficiency Results in Structural Abnormalities in the Mouse Lung, Mereness, 2019
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Moderate-intensity aerobic exercise improves fitness in bethlem myopathy, Vissing, 2019
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Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy, Shimomura, 2019
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A Novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy, Jokela, 2019
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COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report, Bao, 2019
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Extracellular matrix-driven congenital muscular dystrophies, Mohassel, 2018
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, Cummings, 2017
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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea, Lee, 2017​
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Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy, Sardone, 2016
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Diaphragmatic dysfunction in Collagen VI myopathies, Quijano-Roy, 2014
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Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle, Triplett, 2014
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Natural history of pulmonary function in collagen VI-related myopathies, Foley, 2013
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The expanded collagen VI family: new chains and new questions, Fitzgerald, 2013
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Collagen VI-related muscle disorders, Higuchi, 2011
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Zebrafish models of collagen VI-related myopathies, Telfer, 2010
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Natural history of Ullrich congenital muscular dystrophy, Nadeau, 2009
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Collagen VI involvement in Ullrich syndrome- A clinical, genetic, and immunohistochemical study, Mercuri, 2002